Population
Human genome, primate genomic DNA, cDNA and genomic clones
Design
Preclinical
Authors
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D4Z4 characterization supports position-effect hypothesis in FSHD; leaves open causal role of primate repeat expansion in human disease.
The study characterizes the D4Z4 tandem repeat associated with FSHD, suggesting that deletions within this locus might cause disease through a position effect rather than by disrupting a protein-coding gene.
Hewitt et al. (1994) studied this question.
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